Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Motor Map protocol

Abstract Background Hereditary spinal muscular atrophy (SMA) is a motor neuron disorder with a wide range in severity in children and adults. Two therapies that alter splicing of the Survival Motor Neuron 2  (SMN2) gene, i.e. nusinersen and risdiplam, improve motor function in SMA, but treatment eff...

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Autori principali:	Leandra A. A. Ros, H. Stephan Goedee, Hessel Franssen, Fay-Lynn Asselman, Bart Bartels, Inge Cuppen, Ruben P. A. van Eijk, Boudewijn T. H. M. Sleutjes, W. Ludo van der Pol, Renske I. Wadman
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2023-04-01
Serie:	BMC Neurology
Soggetti:	Spinal muscular atrophy Nusinersen Risdiplam Electrophysiological techniques Motor unit
Accesso online:	https://doi.org/10.1186/s12883-023-03207-5
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